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37 year old male developed 3 year insidious onset gradually progressive cognitive decline, memory disturbances, executive dysfunction and mild myoclonic jerks. Positive family history of early onset dementia in mother and maternal aunt. His genetic testing was done which showed PSEN1 mutation. His younger brother, who was asymptomatic, became anxious and wanted to know his genetic profile. His detailed neuropsychological testing is normal. What will you do?
Explanation
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Decision to opt for genetic testing has several repercussions. There are many logistical issues involved. In neurodegenerative disease, genetic testing has one or more of the following purposes diagnostic, predictive, or to inform prognosis. If the neurologist is presented with a patient whose history and clinical features warrant genetic testing, it is strongly recommended to proceed with testing in consultation with a genetic counselor
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Reference
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Jayadev, S. Genetics of Alzheimer Disease. CONTINUUM Lifelong Learning in Neurology 28, 852 (2022).
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Option 1
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Is Correct (Option 1):
Send PSEN-1 mutation genetic testing
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Option 2
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Is Correct (Option 2):
Send Clinical exome sequencing
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Option 3
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Is Correct (Option 3):
Send him to a genetic counsellor
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Option 4
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Is Correct (Option 4):
Deny testing as it will not change the line of management
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